Article
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
Bioinformatics (Oxford, England) - 1 Dec 2012
Fier Heide, Won Sungho, Prokopenko Dmitry, AlChawa Taofik, Ludwig Kerstin U, Fimmers Rolf, Silverman Edwin K, Pagano Marcello, Mangold Elisabeth, Lange Christoph
Abstract excerpt
MOTIVATION: For the analysis of rare variants in sequence data, numerous approaches have been suggested. Fixed and flexible threshold approaches collapse the rare variant information of a genomic region into a test statistic with reduced dimensionality. Alternatively, the rare variant information can be combined in statistical frameworks that are based on suitable regression models, machine learning, etc....
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